A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589688



Internal ID6977017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4666688..4689450hg38UCSC Ensembl
Innerchr2:4666715..4689423hg38UCSC Ensembl
Outerchr2:4666661..4689477hg38UCSC Ensembl
chr2:4714278..4737040hg19UCSC Ensembl
Innerchr2:4714305..4737013hg19UCSC Ensembl
Outerchr2:4714251..4737067hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3822763
hg1922763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10400365
SamplesHG01148
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589688
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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